Linked Data
dbSNP Id:
rs771591792
ExAC:
12:103288476 G / A
gnomAD v2:
12-103288476-G-A
gnomAD v3:
12-102894698-G-A
gnomAD v4:
12-102894698-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894698G>A , CM000674.2:g.102894698G>A | GRCh38 |
| NC_000012.11:g.103288476G>A , CM000674.1:g.103288476G>A | GRCh37 |
| NC_000012.10:g.101812606G>A | NCBI36 |
| NG_008690.1:g.27905C>T | |
| NG_008690.2:g.68713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.352+37C>T MANE Select | ENSP00000448059.1:n.352+37C>T | |
| ENST00000307000.7:c.337+37C>T | ENSP00000303500.2:n.337+37C>T | |
| ENST00000548928.1:n.274+37C>T | ||
| ENST00000549111.5:n.448+37C>T | ||
| ENST00000550978.6:c.336+37C>T | ||
| ENST00000551337.5:c.352+37C>T | ENSP00000447620.1:n.352+37C>T | |
| ENST00000551988.5:n.441+37C>T | ||
| ENST00000553106.5:c.352+37C>T | ENSP00000448059.1:n.352+37C>T | |
| NM_000277.1:c.352+37C>T | NP_000268.1:n.352+37C>T | |
| XM_011538422.1:c.352+37C>T | XP_011536724.1:n.352+37C>T | |
| NM_000277.2:c.352+37C>T | NP_000268.1:n.352+37C>T | |
| NM_001354304.1:c.352+37C>T | NP_001341233.1:n.352+37C>T | |
| XM_017019370.2:c.352+37C>T | XP_016874859.1:n.352+37C>T | |
| NM_000277.3:c.352+37C>T MANE Select | NP_000268.1:n.352+37C>T | |
| NM_001354304.2:c.352+37C>T | NP_001341233.1:n.352+37C>T |